Atelosteogenesis Type 3

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Catherine Yang	+ 605 word(s)	605	2020-12-15 07:16:29

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Yang, C. Atelosteogenesis Type 3. Encyclopedia. Available online: https://encyclopedia.pub/entry/4838 (accessed on 26 September 2026).

Yang C. Atelosteogenesis Type 3. Encyclopedia. Available at: https://encyclopedia.pub/entry/4838. Accessed September 26, 2026.

Yang, Catherine. "Atelosteogenesis Type 3" Encyclopedia, https://encyclopedia.pub/entry/4838 (accessed September 26, 2026).

Yang, C. (2020, December 24). Atelosteogenesis Type 3. In Encyclopedia. https://encyclopedia.pub/entry/4838

Yang, Catherine. "Atelosteogenesis Type 3." Encyclopedia. Web. 24 December, 2020.

Atelosteogenesis Type 3

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/atelosteogenesis-type-3

Atelosteogenesis type 3 is a disorder that affects the development of bones throughout the body. Affected individuals are born with inward- and upward-turning feet (clubfeet) and dislocations of the hips, knees, and elbows. Bones in the spine, rib cage, pelvis, and limbs may be underdeveloped or in some cases absent. As a result of the limb bone abnormalities, individuals with this condition have very short arms and legs. Their hands and feet are wide, with broad fingers and toes that may be permanently bent (camptodactyly) or fused together (syndactyly). Characteristic facial features include a broad forehead, wide-set eyes (hypertelorism), and an underdeveloped nose. About half of affected individuals have an opening in the roof of the mouth (a cleft palate.)

genetic conditions

References

Farrington-Rock C, Firestein MH, Bicknell LS, Superti-Furga A, Bacino CA,Cormier-Daire V, Le Merrer M, Baumann C, Roume J, Rump P, Verheij JB, Sweeney E, Rimoin DL, Lachman RS, Robertson SP, Cohn DH, Krakow D. Mutations in two regions of FLNB result in atelosteogenesis I and III. Hum Mutat. 2006 Jul;27(7):705-10.
Krakow D, Robertson SP, King LM, Morgan T, Sebald ET, Bertolotto C,Wachsmann-Hogiu S, Acuna D, Shapiro SS, Takafuta T, Aftimos S, Kim CA, Firth H,Steiner CE, Cormier-Daire V, Superti-Furga A, Bonafe L, Graham JM Jr, Grix A,Bacino CA, Allanson J, Bialer MG, Lachman RS, Rimoin DL, Cohn DH. Mutations inthe gene encoding filamin B disrupt vertebral segmentation, joint formation andskeletogenesis. Nat Genet. 2004 Apr;36(4):405-10.
Sawyer GM, Clark AR, Robertson SP, Sutherland-Smith AJ. Disease-associatedsubstitutions in the filamin B actin binding domain confer enhanced actin bindingaffinity in the absence of major structural disturbance: Insights from thecrystal structures of filamin B actin binding domains. J Mol Biol. 2009 Jul31;390(5):1030-47. doi: 10.1016/j.jmb.2009.06.009.
Schultz C, Langer LO, Laxova R, Pauli RM. Atelosteogenesis type III: long termsurvival, prenatal diagnosis, and evidence for dominant transmission. Am J MedGenet. 1999 Mar 5;83(1):28-42.

©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.

Upload a video for this entry

Information

Subjects: Genetics & Heredity

Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Catherine Yang

View Times: 971

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

References